Another Rare Case of a Child with de novo Terminal 9p Deletion and Co-Existing Interstitial 9p Duplication: Clinical Findings and Molecular Cytogenetic Study by Array-CGH

M Kowalczyk; A Tomaszewska; A Podbiol-Palenta; M Constantinou; A Wawrzkiewicz-Witkowska; J Kowalski; B Kaluzewski; S Zajaczek; Gosia Srebniak

doi:10.1159/000342165

Another Rare Case of a Child with de novo Terminal 9p Deletion and Co-Existing Interstitial 9p Duplication: Clinical Findings and Molecular Cytogenetic Study by Array-CGH

M Kowalczyk, A Tomaszewska, A Podbiol-Palenta, M Constantinou, A Wawrzkiewicz-Witkowska, J Kowalski, B Kaluzewski, S Zajaczek, Gosia Srebniak

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

8 Citations (Scopus)

Abstract

Trisomy 9p is the fourth most common chromosome abnormality found in liveborns. We report on a rare case of partial trisomy 9p complicated by partial monosomy 9p. Clinical manifestation included craniofacial abnormalities typical for trisomy 9p syndrome, developmental delay, mental retardation and brain anomaly in the form of Dandy-Walker malformation. The cytogenetic abnormality was investigated with FISH and array-CGH to characterize the breakpoints of the complex rearrangement. The patient's karyotype was 46,XX,der(9)del(9)(p24)dup(9)(p21p24)dn.arr 9p24.3p24.2 (1-2,414,485)x1,9p24.2p21.3(2,414,485-24,101,280)x3. The cytogenetic rearrangement led to a 2.4-Mb deletion of 9p24.2pter and a 21.6-Mb duplication of 9p24.2p21.3. The clinical and cytogenetic findings in our and other similar patients are compared. Copyright (C) 2012 S. Karger AG, Basel

Original language	Undefined/Unknown
Pages (from-to)	9-16
Number of pages	8
Journal	Cytogenetic and Genome Research
Volume	139
Issue number	1
DOIs	https://doi.org/10.1159/000342165
Publication status	Published - 2013

Research programs

EMC MGC-02-96-01

Access to Document

10.1159/000342165

http://hdl.handle.net/1765/61007

Cite this

Kowalczyk, M., Tomaszewska, A., Podbiol-Palenta, A., Constantinou, M., Wawrzkiewicz-Witkowska, A., Kowalski, J., Kaluzewski, B., Zajaczek, S., & Srebniak, G. (2013). Another Rare Case of a Child with de novo Terminal 9p Deletion and Co-Existing Interstitial 9p Duplication: Clinical Findings and Molecular Cytogenetic Study by Array-CGH. Cytogenetic and Genome Research, 139(1), 9-16. https://doi.org/10.1159/000342165

@article{1cb64f7d3da84ee9861450c61e90c362,

title = "Another Rare Case of a Child with de novo Terminal 9p Deletion and Co-Existing Interstitial 9p Duplication: Clinical Findings and Molecular Cytogenetic Study by Array-CGH",

abstract = "Trisomy 9p is the fourth most common chromosome abnormality found in liveborns. We report on a rare case of partial trisomy 9p complicated by partial monosomy 9p. Clinical manifestation included craniofacial abnormalities typical for trisomy 9p syndrome, developmental delay, mental retardation and brain anomaly in the form of Dandy-Walker malformation. The cytogenetic abnormality was investigated with FISH and array-CGH to characterize the breakpoints of the complex rearrangement. The patient's karyotype was 46,XX,der(9)del(9)(p24)dup(9)(p21p24)dn.arr 9p24.3p24.2 (1-2,414,485)x1,9p24.2p21.3(2,414,485-24,101,280)x3. The cytogenetic rearrangement led to a 2.4-Mb deletion of 9p24.2pter and a 21.6-Mb duplication of 9p24.2p21.3. The clinical and cytogenetic findings in our and other similar patients are compared. Copyright (C) 2012 S. Karger AG, Basel",

author = "M Kowalczyk and A Tomaszewska and A Podbiol-Palenta and M Constantinou and A Wawrzkiewicz-Witkowska and J Kowalski and B Kaluzewski and S Zajaczek and Gosia Srebniak",

year = "2013",

doi = "10.1159/000342165",

language = "Undefined/Unknown",

volume = "139",

pages = "9--16",

journal = "Cytogenetic and Genome Research",

issn = "1424-8581",

publisher = "Karger",

number = "1",

}

Kowalczyk, M, Tomaszewska, A, Podbiol-Palenta, A, Constantinou, M, Wawrzkiewicz-Witkowska, A, Kowalski, J, Kaluzewski, B, Zajaczek, S & Srebniak, G 2013, 'Another Rare Case of a Child with de novo Terminal 9p Deletion and Co-Existing Interstitial 9p Duplication: Clinical Findings and Molecular Cytogenetic Study by Array-CGH', Cytogenetic and Genome Research, vol. 139, no. 1, pp. 9-16. https://doi.org/10.1159/000342165

Another Rare Case of a Child with de novo Terminal 9p Deletion and Co-Existing Interstitial 9p Duplication: Clinical Findings and Molecular Cytogenetic Study by Array-CGH. / Kowalczyk, M; Tomaszewska, A; Podbiol-Palenta, A et al.
In: Cytogenetic and Genome Research, Vol. 139, No. 1, 2013, p. 9-16.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Another Rare Case of a Child with de novo Terminal 9p Deletion and Co-Existing Interstitial 9p Duplication: Clinical Findings and Molecular Cytogenetic Study by Array-CGH

AU - Kowalczyk, M

AU - Tomaszewska, A

AU - Podbiol-Palenta, A

AU - Constantinou, M

AU - Wawrzkiewicz-Witkowska, A

AU - Kowalski, J

AU - Kaluzewski, B

AU - Zajaczek, S

AU - Srebniak, Gosia

PY - 2013

Y1 - 2013

N2 - Trisomy 9p is the fourth most common chromosome abnormality found in liveborns. We report on a rare case of partial trisomy 9p complicated by partial monosomy 9p. Clinical manifestation included craniofacial abnormalities typical for trisomy 9p syndrome, developmental delay, mental retardation and brain anomaly in the form of Dandy-Walker malformation. The cytogenetic abnormality was investigated with FISH and array-CGH to characterize the breakpoints of the complex rearrangement. The patient's karyotype was 46,XX,der(9)del(9)(p24)dup(9)(p21p24)dn.arr 9p24.3p24.2 (1-2,414,485)x1,9p24.2p21.3(2,414,485-24,101,280)x3. The cytogenetic rearrangement led to a 2.4-Mb deletion of 9p24.2pter and a 21.6-Mb duplication of 9p24.2p21.3. The clinical and cytogenetic findings in our and other similar patients are compared. Copyright (C) 2012 S. Karger AG, Basel

AB - Trisomy 9p is the fourth most common chromosome abnormality found in liveborns. We report on a rare case of partial trisomy 9p complicated by partial monosomy 9p. Clinical manifestation included craniofacial abnormalities typical for trisomy 9p syndrome, developmental delay, mental retardation and brain anomaly in the form of Dandy-Walker malformation. The cytogenetic abnormality was investigated with FISH and array-CGH to characterize the breakpoints of the complex rearrangement. The patient's karyotype was 46,XX,der(9)del(9)(p24)dup(9)(p21p24)dn.arr 9p24.3p24.2 (1-2,414,485)x1,9p24.2p21.3(2,414,485-24,101,280)x3. The cytogenetic rearrangement led to a 2.4-Mb deletion of 9p24.2pter and a 21.6-Mb duplication of 9p24.2p21.3. The clinical and cytogenetic findings in our and other similar patients are compared. Copyright (C) 2012 S. Karger AG, Basel

U2 - 10.1159/000342165

DO - 10.1159/000342165

M3 - Article

C2 - 22965227

SN - 1424-8581

VL - 139

SP - 9

EP - 16

JO - Cytogenetic and Genome Research

JF - Cytogenetic and Genome Research

IS - 1

ER -